Words similar to fibrillin

Example sentences for: fibrillin

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It is well established that EGF-like modules are important structural features found in many extracellular proteins and that these modules enable numerous protein :protein interactions; the binding of EGF-like modules in laminin to nidogen [ 19 ] and the interaction of EGF-like modules within fibrillin monomers [ 20 21 ] . Calcium may be required for some of these protein interactions.
In Case 2 with del exons 44-46, fibrillin synthesis was normal (109% of control), indicating that the mutant fibrillin molecules are stable.
This hypothesis is not only based on analysis of Case 1 reported here but on a similar analysis of five previously reported cases, one with exon 51 skipping [ 19 ] and four with cysteine substitutions immediately N-terminal of the LTBP like domains [ 9 ] . It is also possible, however, that proteolytic fragments of the mutant protein associate with the normal length fibrillin molecules and inhibit their secretion.
In this patient's fibroblasts, fibrillin synthesis was 41% of control and deposition was reduced to 5%, while the mutant mRNA level was normal as shown here in Fig.
To search for additional large genomic rearrangements, we carried out Southern analyses of BamH I, Sac I and Bgl II digested genomic DNA from 18 fibroblasts strains that were negative for FBN1 mutation screening by other methods, but had shown abnormal fibrillin biosynthetic profiles by pulse-chase analysis.